ClinVar

NM_198994.3(TGM6):c.1656C>T (p.Ala552=)

Gene:

TGM6:transglutaminase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 2417551 (on Assembly GRCh38)
• Chr20: 2398197 (on Assembly GRCh37)

Preferred name:

NM_198994.3(TGM6):c.1656C>T (p.Ala552=)

HGVS:

• NC_000020.11:g.2417551C>T
• NG_031917.1:g.41644C>T
• NM_001254734.2:c.1656C>T
• NM_198994.3:c.1656C>TMANE SELECT
• NP_001241663.1:p.Ala552=
• NP_945345.2:p.Ala552=
• NC_000020.10:g.2398197C>T
• NM_198994.2:c.1656C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75601099

NCBI 1000 Genomes Browser:

rs75601099

Molecular consequence:

• NM_001254734.2:c.1656C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198994.3:c.1656C>T - synonymous variant - [Sequence Ontology: SO:0001819]